从肿瘤全基因组测序重建亚克隆组成和进化
Reconstructing subclonal composition and evolution from whole genome sequencing of tumors
摘要：
肿瘤通常含有由不同的体细胞突变定义的多个癌细胞亚群。我们描述了一种新的方法，PhyloWGS，可以应用于WGS数据从一个或多个肿瘤样本重建这些亚群的完整基因型的基础上变异等位基因频率（VAF）的点突变和结构变异的人口频率。我们介绍了一个原则性的VAF基因座的拷贝数改变的影响，我们表明，这种校正大大提高了亚克隆重建相比，现有的方法。
英文摘要：
Tumors often contain multiple subpopulations of cancerous cells defined by distinct somatic mutations. We describe a new method, PhyloWGS, that can be applied to WGS data from one or more tumor samples to reconstruct complete genotypes of these subpopulations based on variant allele frequencies (VAFs) of point mutations and population frequencies of structural variations. We introduce a principled phylogenic correction for VAFs in loci affected by copy number alterations and we show that this correction greatly improves subclonal reconstruction compared to existing methods.
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